scholarly journals Power and limits of selection genome scans on temporal data from a selfing population

Author(s):  
Miguel Navascués ◽  
Arnaud Becheler ◽  
Laurène Gay ◽  
Joëlle Ronfort ◽  
Karine Loridon ◽  
...  

AbstractTracking genetic changes of populations through time allows a more direct study of the evolutionary processes acting on the population than a single contemporary sample. Several statistical methods have been developed to characterize the demography and selection from temporal population genetic data. However, these methods are usually developed under the assumption of outcrossing reproduction and might not be applicable when there is substantial selfing in the population. Here, we focus on a method to detect loci under selection based on a genome scan of temporal differentiation, adapting it to the particularities of selfing populations. Selfing reduces the effective recombination rate and can extend hitch-hiking effects to the whole genome, erasing any local signal of selection on a genome scan. Therefore, selfing is expected to reduce the power of the test. By means of simulations, we evaluate the performance of the method under scenarios of adaptation from new mutations or standing variation at different rates of selfing. We find that the detection of loci under selection in predominantly selfing populations remains challenging even with the adapted method. Still, selective sweeps from standing variation on predominantly selfing populations can leave some signal of selection around the selected site thanks to historical recombination before the sweep. Under this scenario, ancestral advantageous alleles at low frequency leave the strongest local signal, while new advantageous mutations leave no local footprint of the sweep.

animal ◽  
2019 ◽  
Vol 13 (4) ◽  
pp. 683-693 ◽  
Author(s):  
Z. Wang ◽  
H. Sun ◽  
Q. Chen ◽  
X. Zhang ◽  
Q. Wang ◽  
...  

2015 ◽  
Vol 23 ◽  
pp. 77-86 ◽  
Author(s):  
Román Vilas ◽  
Sara G. Vandamme ◽  
Manuel Vera ◽  
Carmen Bouza ◽  
Gregory E. Maes ◽  
...  

2021 ◽  
Vol 23 (Supplement_6) ◽  
pp. vi124-vi124
Author(s):  
Insa Prilop ◽  
Thomas Pinzer ◽  
Daniel Cahill ◽  
Priscilla Brastianos ◽  
Gabriele Schackert ◽  
...  

Abstract OBJECTIVE Multiple meningiomas (MM) are rare and present a unique management challenge. While the mutational landscape of single meningiomas has been extensively studied, understanding the molecular pathogenesis of sporadic MM remains incomplete. The objective of this study is to elucidate the genetic features of sporadic MM. METHODS We identified nine patients with MM (n=19) defined as ≥2 spatially separated synchronous or metachronous meningiomas. We profiled genetic changes in these tumors using next-generation sequencing (NGS) assay that covers a large number of targetable and frequently mutated genes in meningiomas including AKT1, KLF4, NF2, PIK3CA/PIK3R1, POLR2A, SMARCB1, SMO, SUFU, TRAF7, and the TERT promoter. RESULTS Most of MM were WHO grade 1 (n= 16, 84.2%). Within individual patients, no driver mutation was shared between separate tumors. All but two cases harbored different hot spot mutations in known meningioma-driver genes like TRAF7 (n= 5), PIK3CA (n= 4), AKT1 (n= 3), POLR2A (n=1) and SMO (n= 1). Moreover, individual tumors differed in histologic subtype in 8/9 patients. The low frequency of NF2 mutations in our series stands in contrast to previous studies that included hereditary cases arising in the setting of neurofibromatosis type 2 (NF2). CONCLUSIONS Our findings provide evidence for genomic inter-tumor heterogeneity and an independent molecular origin of sporadic NF2 wild-type MM. Furthermore, these findings suggest that genetic characterization of each lesion is warranted in sporadic MM.


PLoS ONE ◽  
2011 ◽  
Vol 6 (6) ◽  
pp. e21158 ◽  
Author(s):  
Elsa García-Gámez ◽  
Antonio Reverter ◽  
Vicki Whan ◽  
Sean M. McWilliam ◽  
Juan José Arranz ◽  
...  
Keyword(s):  

2006 ◽  
Vol 26 (1) ◽  
pp. 46-54 ◽  
Author(s):  
Philip Hanlon ◽  
William Andrew Lorenz ◽  
Zhihong Shao ◽  
James M. Harper ◽  
Andrzej T. Galecki ◽  
...  

A previous analysis of serum insulin-like growth factor I (IGF-I) levels in a mouse population ( n = 961) derived from a cross of (BALB/cJ × C57BL/6J) F1 females and (C3H/HeJ × DBA/2J) F1 males documented quantitative trait loci (QTL) on chromosomes 1, 10, and 17. We employed a newly developed, random walk-based method to search for three- and four-way allelic combinations that might influence IGF-I levels through nonadditive (conditional or epistatic) interactions among 185 genotyped biallelic loci and with significance defined by experiment-wide permutation ( P < 0.05). We documented a three-locus combination in which an epistatic interaction between QTL on paternal-derived chromosomes 5 and 18 had an opposite effect on the phenotype based on the allele inherited at a third locus on maternal-derived chromosome 17. The search also revealed three four-locus combinations that influence IGF-I levels through nonadditive genetic interactions. In two cases, the four-allele combinations were associated with animals having high levels of IGF-I, and, in the third case, a four-allele combination was associated with animals having low IGF-I levels. The multiple-locus genome scan algorithm revealed new IGF-I QTL on chromosomes 2, 4, 5, 7, 8, and 12 that had not been detected in the single-locus genome search and showed that levels of this hormone can be regulated by complex, nonadditive interactions among multiple loci. The analysis method can detect multilocus interactions in a genome scan experiment and may provide new ways to explore the genetic architecture of complex physiological phenotypes.


2000 ◽  
Vol 165 (9) ◽  
pp. 5278-5286 ◽  
Author(s):  
Jeffrey M. Otto ◽  
Raman Chandrasekeran ◽  
Csaba Vermes ◽  
Katalin Mikecz ◽  
Alison Finnegan ◽  
...  

Author(s):  
Benjamin M. Neale ◽  
Patrick F. Sullivan ◽  
Kenneth S. Kendler
Keyword(s):  

2007 ◽  
Vol 90 (7) ◽  
pp. 3482-3489 ◽  
Author(s):  
M. Lillehammer ◽  
M. Árnyasi ◽  
S. Lien ◽  
H.G. Olsen ◽  
E. Sehested ◽  
...  

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